Description
N-terminal His6-tagged recombinant, human full length BTK. Specific mutations within the pleckstrin homology (PH) domain of BTK results in human X-linked aγglobulinemia (XLA). The E41K substitution, identified through random mutagenesis, is a PH domain gain-of-function mutation that has been shown to be associated with increased membrane localization and tyrosine phosphorylation of BTK. Using animal models, this mutation has been shown to arrest the development of immature B cells and to act as a tumour suppressor in B-cell linker protein (BLNK/SLP-65)-deficient hosts. (Li,. et al., Immunity,(1995);2:451-460 and Baraldi, E., et al., Structure,(1999);7:449-460)